Marfan+Syndrome

Marfan Syndrome Simrin Kullar =__**What is Marfan Syndrome?**__= Marfan Syndrome is a genetic disorder. When its inherited it is a dominant trait. The gene it is carried from is the FBN1. Since the disease is dominant people who inherited the FBN1 gene from either parent will get the disease. Marfan Syndrome affects your connective tissue. Your connective tissue holds your body together and helps your growth and development system. When you have Marfan Syndrome the connective tissue does not work like it should. Marfan syndrome can affect many body systems, since it is found throughout your body. Some body systems it affects are your skeleton, your eyes, your heart/blood vessels, your nervous system, your skin, and your lungs. There are different rates of this disease it ranges from mild to severe. The severe part affects your heart valves and aorta. The mild part of this disease affects your lungs, eyes, spinal cord, and skeleton. This disease affects all men, women, and children. The estimation of people getting this disease is 1 in 5,000 people in the United States. =__**What are the symptoms of Marfan Syndrome?**__= The Marfan Syndrome can affect you in many ways. It really depends on how bad your case of it is. One symptom of Marfan Syndrome is your skeleton. Most of the people with Marfan Syndrome are tall, slender, and loose jointed. Since Marfan Syndrome affects long bones of your body your legs, arms, fingers, and toes are at risk of being affected and most likely will be. People with Marfan Syndrome often have long narrow faces and Marfan Syndrome can affect the top of your mouth and cause it to be arched. Which then causes your teeth to be arched. An abnormal spine shape is a sign of Marfan Syndrome. A few other signs include flat feet, stopped shoulders, stretch marks, and hammer toes. Marfan Syndrome affects your skeleton in many ways. Another symptom of Marfan Syndrome is your eyes. Your eyes can be affected in many ways. Most people with Marfan Syndrome experience dislocation of one or both lenses of their eye. The lense is shifted or slightly higher or lower than normal. The dislocation is different everytime sometimes it is minimal or sometimes it is very severe/obvious. A very serious thing that happens with Marfan Syndrome is retinal detachment which is when your retina peals away on your eye. If your nearsighted with Marfan Syndrome you can develop high pressure within your eye or your lenses to loose sight/clearness. If you have a severe case of Marfan Syndrome you heart and blood vessels also known as your cardiovascular system can be affected very highly. Since your connecive tissue is affected the large artery that carries blood from the heart to the rest of the body, the aorta, is stretched and goes through a process called aortic dilatation. Aortic dilatation causes your aorta to tear causing serious heart problems or death unexpected. In some cases your heart valves can start to leak which causes heart murmur. Small leaks don't cause that much, where as bigger leaks can cause shortness of breath, fatigue, or a very fast irregular hearbeat. Marfan Syndrome also affects your nervous system. Your brain/spinal cord are surrounded by a fluid contained by a membrane called the dura, composed by the connective tissue. As people with Marfan Syndrome get older their dura weakens/stretches and then begins to ware away the bone surrounding the spinal cord. As your body goes through this you experience mild discomfort or pain/weakness/numbness to your legs. Another symptom of Marfan Syndrome is is your skin getting messed up. When you have Marfan Syndrome your skin often gets stretch marks without any weight change. This can happen at any age and you can be at a big risk for developing an abdominal or inguinal hernia which is an opening or weakness in the muscular structure of your body. Lastly, a symptom of Marfan Syndrome is your lungs. Your tiny air sascs in your lungs are most likely to become stretched or swollen, which is when the wisk of lung collapse msy increase. People with Marfan Syndrome rarely have sleeping breathing disorders such as snoring or sleep apnea which is when breifly your breathing stops. =__**What causes Marfan Syndrome?**__= A person who has Marfan Syndrome is born with it, although it is most likely diagnosed later in their life. It is caused by a defect in the gene which determines the structure, fibrillin 1, a very important protien thats an important part of the connective tissue. The gene of Marfan Syndrome can be inherited and the child who has a parent with it has a 50% chance of getting it. During the formation of a sperm and egg cell a new gene can be detected which can cause the child to get Marfan Syndrome without their parents having it. Although it is very rare, and a 1 in 10,000 chance. Not everyone with Marfan Syndrome experiences the same characteristics to the same degree, the defective gene expresses itself differently in different people.